[Term]
id: PR:000062019
name: solute carrier family 12 member 1 sequence variant R302Q (human)
def: "A solute carrier family 12 member 1 (human) that has a Gln residue at the position equivalent to Arg-302 of the amino acid sequence represented by UniProtKB:Q13621-1. Example: UniProtKB:Q13621-1, Arg-302, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-5623568]
comment: Category=organism-sequence.
synonym: "hSLC12A1/var:R302Q" EXACT PRO-short-label [PRO:DNx]
synonym: "SLC12A1 R302Q" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5623568]
synonym: "UniProtKB:Q13621, Arg-302, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q13621-1, Arg-302, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5623568 "PR:000062019 located_in GO:0005886"
is_a: PR:Q13621 ! solute carrier family 12 member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens